TABLE 1.
Patients analyzed in this study and their characteristics
| Patient | Age (Year) | Sex | Renal function | Kidney biopsy | gDNA substitution | mRNA analysis of patient samples | In vitro minigene assay |
|---|---|---|---|---|---|---|---|
| Patient 1 (A178) | 23 | Male | eGFR = 32.4 mL/min/1.73 m2 |
Lamellation of the GBM Negative expression of α5 (IV) |
c.876 A>T p.Gly292= | r.[875_891del, 857_891del] | r.[=, 875_891del, 857_891del] |
| No.1 (Barker et al.) a | N/A | Female | ESRD+ (Male patients in family) | N/A | c.874 G>C p.Gly292Arg | N/A | r.= |
| No.2 (Heiskari et al.) b | N/A | Male | ESRD at 15 year | MPGN‐like (light microscopy only) | c.875 G>T p.Gly292Val | N/A | r.= |
| Patient 2 (A467) | 43 | Male | ESRD at 43 year |
Positive expression of α5 (IV) Thin basement membrane |
c.2358 A>G p.Pro786= | r.[=, 2245_2395del] | r.[=, 2245_2395del] |
| Patient 3 (A514) | 56 | Female | eGFR = 32.8 mL/min/1.73 m2 |
Mosaic pattern of α5 (IV) expression Thin basement membrane |
c.3906 A>G p.Gln1302= | N/A | r.[=, 3791_3924del] |
| No.3 (Cheong et al.) c | N/A | N/A | ESRD as juvenile | N/A | c.3904 C>T p.Gln1302Term | N/A | r.[=, 3791_3924del] |
Abbreviation: N/A, not available.
a
Barker DF, Denison JC, Atkin CL, Gregory MC. Am J Med Gen. 2001;98:148–60.
b
Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, et al. J Am Soc Nephrol. 1996;7:702–9.
c
Cheong HI, Park HW, Ha IS, Choi Y. Pediatr Nephrol (Berlin, Germany). 2000;14:117–21.